Article
Distinct hypertrophic cardiomyopathy genotypes result in convergent sarcomeric proteoform profiles revealed by top-down proteomics.
Proceedings of the National Academy of Sciences of the United States of America - 6 Oct 2020
Tucholski Trisha, Cai Wenxuan, Gregorich Zachery R, Bayne Elizabeth F, Mitchell Stanford D, McIlwain Sean J, de Lange Willem J, Wrobbel Max, Karp Hannah, Hite Zachary, Vikhorev Petr G, Marston Steven B, Lal Sean, Li Amy, Dos Remedios Cristobal, Kohmoto Takushi, Hermsen Joshua, Ralphe J Carter, Kamp Timothy J, Moss Richard L, Ge Ying
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is the most common heritable heart disease. Although the genetic cause of HCM has been linked to mutations in genes encoding sarcomeric proteins, the ability to predict clinical outcomes based on specific mutations in HCM patients is limited. Moreover, how mutations in different sarcomeric proteins can result in highly similar clinical phenotypes remains unknown....
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